NA08035
DNA from Fibroblast
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Thigh
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Skin
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XY,+i(12)(p10).ish i(12)(p10)(12ptel27+,D12Z3+,12ptel27+)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Skin biopsy (thigh); Pallister mosaic aneuploidy syn; expired at age 7 weeks; dysmorphic facies: hypertelorism, flat face, prominent forehead, frontal bossing, long philtrum, high, narrow palate; mod hypotonia; broad, short hands & feet |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
| |
| Greig GM, Parikh S, George J, Powers VE, Willard HF, Molecular cytogenetics of alpha satellite DNA from chromosome 12: fluorescence in situ hybridization and description of DNA and array length polymorphisms. Cytogenet Cell Genet56:144-8 1991 |
| PubMed ID: 1675980 |
|